Pain syndromes

Gene: ELP1

Green List (high evidence)

ELP1 (elongator complex protein 1)
EnsemblGeneIds (GRCh38): ENSG00000070061
EnsemblGeneIds (GRCh37): ENSG00000070061
OMIM: 603722, Gene2Phenotype
ELP1 is in 9 panels

3 reviews

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Rated as green as it clearly caused the phenotype and although mainly described in the Ashkenazi population, at least one mutation has been identified in non-Ashkenazi (12687659)
Created: 13 Jul 2017, 9:40 a.m.
dysfunction in pain sensation is part of the spectrum
Created: 29 Jun 2017, 9:16 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III, 223900; Dysautonomia, familial 223900

Louise Daugherty (Genomics England Curator)

I don't know

Comment on phenotypes: reformatted phenotype listing
Created: 19 Sep 2017, 11:34 a.m.
Comment on list classification: changed from Amber to Green after review with clinical team
Created: 18 Jul 2017, 11:16 a.m.
High evidence. Riley Day Syndrome/HSAN 3 are alternative titles for the disorder. Disorder almost completely limited to persons of Ashkenazi Jewish extraction (one case exception PMID: 12687659) . Two pathogenic variants account for more than 99% of mutated alleles in individuals with FD of Ashkenazi Jewish descent. The major founder variant c.2204+6T>C (formerly IVS20+6T>C) is responsible for virtually all occurrences of FD among the Ashkenazim. However, there is at least one non-Jewish individual has had molecularly confirmed FD (PMID:12687659). As there is one non-Jewish individual we may NOT need to tag as FOUNDER so can make this gene green on this panel. Need to check with clinical team regarding founder tag/pertinence of this gene.
Created: 11 Jul 2017, 12:25 p.m.
on Emory Genetics Laboratory Hereditary Neuropathies and Ashkenazi Jewish Carrier Screen: Gene Sequencing Panel
Created: 11 Jul 2017, 12:16 p.m.
Comment on list classification:To be reviewed by clinical team regarding the pertinence of this gene
Created: 9 Jul 2017, 4:56 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dysautonomia, familial; 223900

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Familial dysautonomia

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Familial dysautonomia
  • NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III
  • Dysautonomia, familial, 223900
OMIM
603722
Clinvar variants
Variants in ELP1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

5 Nov 2017, Gel status: 3

Changed Gene Name

GEL ()

IKBKAP was changed to ELP1

19 Sep 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

19th September 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.

19 Sep 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for IKBKAP were set to Familial dysautonomia; NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; Dysautonomia, familial, 223900

18 Jul 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 Jul 2017, Gel status: 2

Upload gene information

Louise Daugherty (Genomics England Curator)

IKBKAP was added to Pain syndromespanel. Sources: UKGTN

11 Jul 2017, Gel status: 2

Upload gene information

Louise Daugherty (Genomics England Curator)

IKBKAP was added to Pain syndromespanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory

9 Jul 2017, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for IKBKAP were set to Familial dysautonomia;NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; Dysautonomia, familial;223900

9 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

9 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

IKBKAP was created by BRIDGE

9 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

IKBKAP was added to Pain syndromespanel. Sources: BRIDGE Study Tier 1 Gene